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Article

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

Nature - 8 Feb 1990

Jadayel D, Fain P, Upadhyaya M, Ponder M A, Huson S M, Carey J, Fryer A, Mathew C G, Barker D F, Ponder B A

Abstract excerpt

Von Recklinghausen neurofibromatosis (NF-1) is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10(-4] is one of the highest for a human disorder. Here we report that in 12 of 14 families we have analysed, the new mutation is of paternal origin. This result is similar to that recently obtained for retinoblastoma. In other genetic disorders that show a bias towards paternal origin of new...

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Identifiers

PMID: 2105472
DOI: 10.1038/343558a0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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